Brachydactyly-arterial hypertension syndrome
Synonyms: Bilginturan brachydactyly | Bilginturan syndrome | Brachydactyly type E, with short stature and hypertension
A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members) stocky build and a round face. The onset of hypertension is often in childhood.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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